| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Genetic Diseases, X-Linked | 100 | + + | |
| 2 | Metabolism, Inborn Errors | 31 | + + | |
| 3 | Genetic Diseases, Y-Linked | 25 | + + | |
| 4 | Heredodegenerative Disorders, Nervous System | 23 | + + | |
| 5 | Skin Diseases, Genetic | 16 | + + | |
| 6 | Cystic Fibrosis | 13 | + + | |
| 7 | Werner Syndrome | 7 | + + | |
| 8 | Eye Diseases, Hereditary | 4 | + + | |
| 9 | Neoplastic Syndromes, Hereditary | 4 | + + | |
| 10 | Muscular Dystrophies | 3 | + + | |
| 11 | Chromosome Disorders | 1 | + + | |
| 12 | Kallmann Syndrome | 1 | + + | |
| 13 | Hyper-IgM Immunodeficiency Syndrome | 1 | + + |